ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)

gnomAD frequency: 0.00006  dbSNP: rs372911542
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282693 SCV000345317 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642954 SCV000764641 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764336 SCV000895355 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000282693 SCV003824093 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150157 SCV003838008 likely benign Cardiomyopathy 2022-02-11 criteria provided, single submitter clinical testing

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